Clinical Trial: Modifiers of Disease Severity in Cerebral Cavernous Malformations

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational [Patient Registry]



Official Title: Modifiers of Disease Severity and Progression in Cerebral Cavernous Malformations

Brief Summary:

Cerebral cavernous malformations (CCMs) are clusters of abnormal blood vessels in the brain and spine. CCMs can bleed and cause strokes, seizures, and headaches. CCMs are often caused by an inherited gene mutation (alteration) called CCM1. There is a wide range of disease severity even among family members with this disease, though the natural history has not been clearly described for this particular population.

This study will examine factors that influence disease severity through the collection of blood samples, detailed medical histories, physical and neurological exam, and magnetic resonance imaging (MRI) of the brain in medical records. The specific goals of this study are to:

  1. establish a registry/database of familial CCM cases with detailed clinical data,
  2. perform genetic testing on participant blood samples to identify other genes that may influence the development and hemorrhage of CCM lesions, and
  3. determine lesion growth during the study.